E2Q (p.Glu2Gln) variant of SV2A (Synaptic vesicle glycoprotein 2A)
E2Q (p.Glu2Gln) in SV2A (Synaptic vesicle glycoprotein 2A) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes structural context.
E2Q (p.Glu2Gln) variant details
- p.Glu2Gln
- TOPMed rs2092494550
- Missense
- Variant Prioritization Score for Impact Estimate 0.237
- ESM-1b 0.00
- AlphaMissense 0.27
- MetaLR 0.04
- MetaSVM -0.89
- SIFT 1.00
- Structural context available